Diagnosis of Smith-Lemli-Opitz syndrome by ultraviolet spectrophotometry
Abstract
Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder due to an inborn error of cholesterol metabolism, characterized by congenital malformations, dysmorphism of multiple organs, mental retardation and delayed neuropsychomotor development resulting from cholesterol biosynthesis deficiency. A defect in 3ß-hydroxysteroid-delta7-reductase (delta7-sterol-reductase), responsible for the conversion of 7-dehydrocholesterol (7-DHC) to cholesterol, causes an increase in 7-DHC and frequently reduces plasma cholesterol levels. The clinical diagnosis of SLOS cannot always be conclusive because of the remarkable variability of clinical expression of the disorder. Thus, confirmation by the measurement of plasma 7-DHC levels is needed. In the present study, we used a simple, fast, and selective method based on ultraviolet spectrophotometry to measure 7-DHC in order to diagnose SLOS. 7-DHC was extracted serially from 200 µl plasma with ethanol and n-hexane and the absorbance at 234 and 282 nm was determined. The method was applied to negative control plasma samples from 23 normal individuals and from 6 cases of suspected SLOS. The method was adequate and reliable and 2 SLOS cases were diagnosed.
How to cite this document
Keywords
Language
Collections

Related items
Showing items related by title, author, creator and subject.
-
Núcleos de Ensino da Unesp: artigos 2009
Pinho, Sheila Zambello de; Oliveira, José Brás Barreto de
; Gazola, Rodrigo José Cristiano
; Mazotti, Adriano César
; Molero, Camila Schimite
; Mendes, Carolina Borghi
; Mello, Denise Fernandes de
; Marques, Emilia de Mendonça Rosa
; Talamoni, Jandira Liria Biscalquini
; Silva, José Humberto Dias da
et al. (Coleção PROGRAD (UNESP), 2011) [Livro]
-
Núcleos de Ensino da Unesp: artigos 2008
Pinho, Sheila Zambello de; Oliveira, José Brás Barreto de
; Pontes, Sueli Rodrigues
; Almeida, Djanira Soares de Oliveira e
; Godoy, Kathya Maria Ayres de
; Rosa, Claudia de Souza
; Nunes, Julianus Araújo
; Salvador, Sérgio Azevedo
; David, Célia Maria
; Vilche Peña, Angel Fidel
et al. (Coleção PROGRAD (UNESP), 2011) [Livro]
-
Ser e tornar-se professor: práticas educativas no contexto escolar
Pinho, Sheila Zambello de; Spazziani, Maria de Lourdes
; Mendonça, Sueli Guadelupe de Lima
; Rubo, Elisabete Aparecida Andrello
; Villarreal, Dalva Maria de Oliveira
; Duarte, Camila
; Okamoto, Mary Yoko
; Souza, Thais R.
; Garms, Gilza Maria Zauhy
; Marin, Fátima Aparecida Dias Gomes
et al. (Coleção PROGRAD (UNESP), 2012) [Livro]